What is Santavuori Disease?
Santavuori Disease is an extremely rare pathological condition which belongs to a group of disorders called Neuronal Ceroid Lipofuscinoses. Santavuori Disease is the infantile form of the disorders. Santavuori Disease is a condition in which there is accumulation of fatty deposits and carbohydrates in the brain cells, spinal cord, and other vital organs of the body which start to gradually destroy these cells.
Santavuori Disease is basically a lipid storage disorder and is caused by deficiency of palmitoyl-protein thioesterase 1 enzyme. This accumulation of fatty deposits results in gradual deterioration of brain function along with neurological impairment and other signs and symptoms. Santavuori Disease is basically an inherited condition caused by mutation of gene PPT1 in an autosomal recessive manner.
A child with this condition will act normally up until about the age of one when the symptoms start to surface and then there is rapid progression of the disease leading to the child being absolutely disabled as a result of Santavuori Disease.
What are the Causes of Santavuori Disease?
As stated, the root cause of Santavuori Disease is mutation of the PPT1 gene. The function of the PPT1 gene is for production of an enzyme palmitoyl-protein thioesterase 1 which is extremely important for functioning of lysosomes. Lysosomes are present in cells and assist in breakdown of fatty substances, sugars, and carbohydrates. As a result of the faulty gene, the palmitoyl-protein thioesterase 1 enzyme does not function adequately thus causing malfunction of lysosomes.
Due to this, there is gradual accumulation of fatty products, sugar, and carbohydrates in the tissues of the body including the brain and spinal cord resulting in development of Santavuori Disease. It is an autosomal recessive disorder meaning that two copies of the faulty gene need to be inherited from each parent in order for a child to develop Santavuori Disease.
What are the Symptoms of Santavuori Disease?
In majority of the cases, the first symptoms of Santavuori Disease start to appear when the child is about 2 years of age. In the first phase, the child may exhibit some psychomotor retardation in which there will be a delay in mental coordination.
Additionally, the child may also lose whatever mental and physical abilities he or she might have developed before, a condition known as developmental regression. After this, the disease starts to progress rapidly as the fats and carbohydrates start to accumulate in the brain and spinal cord leading to seizures, loss of ability to voluntarily move muscles, hypotonia.
The child may also develop ocular abnormalities as a result of Santavuori Disease which may be rapidly progressive. As the disease condition progresses there will be increased neurological impairments where the child will lose the ability to respond to stimuli, will have frequent bouts of seizures, and virtually become immobile as a result of Santavuori Disease.
How is Santavuori Disease Diagnosed?
Based on the history and symptoms experienced by the child, the physician may suspect Santavuori Disease at play. Physician may perform an enzyme assay to determine any abnormality in the palmitoyl-protein thioesterase 1 enzyme. Child affected with Santavuori Disease will clearly have abnormalities in the functioning of these enzymes which will virtually confirm the diagnosis of Santavuori Disease. Genetic testing may also be done to check for mutations of the PPY1 gene which will be positive in cases of Santavuori Disease.
How is Santavuori Disease Treated?
There is no clear cut cure for Santavuori Disease as the treatment is basically symptomatic and supportive. The treatment for Santavuori Disease will require a multidisciplinary team to include neurologist, neurosurgeons, ophthalmologists, people with expertise in speech therapy, and the like.
The seizures and muscle spasms can be controlled with anticonvulsants and muscle relaxants. Children who complain of anxiety and depression may be treated with anxiolytics and antidepressants. For treatment of pain due to Santavuori Disease, pain medications in the form of NSAIDs and opioids may also be given.
Additionally, the child with Santavuori Disease may require aggressive physical therapy to regain some of the strength and movement back. Speech therapy may also be of some benefit in trying to make the child as independent as possible so that he or she may be able to put his or her thoughts across and not be totally dependent on others for all activities.
In some cases, for nutritional purposes the child may require insertion of a gastric tube as the child may lose the ability to move the muscles required for eating and thus placement of a gastric tube becomes a necessity as a result of Santavuori Disease.
What is the Prognosis of Santavuori Disease?
The overall prognosis for Santavuori Disease is variable and some children can live up to early adulthood but in most of the cases affected children tend to have life threatening complications by the first decade of life to which they eventually succumb to as a result of Santavuori Disease.